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Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

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dc.creatorCharrow, Joelspa
dc.creatorAlden, Tord D.spa
dc.creatorBreathnach, Catherine Ann R.spa
dc.creatorFrawley, Geoffrey P.spa
dc.creatorHendriksz, Christian J.spa
dc.creatorLink, Biancaspa
dc.creatorMackenzie, William G.spa
dc.creatorManara, Renzospa
dc.creatorOffiah, Amaka C.spa
dc.creatorSolano, Martha L.spa
dc.creatorTheroux, Maryspa
dc.date.accessioned2020-05-25T23:57:09Z
dc.date.available2020-05-25T23:57:09Z
dc.date.created2015spa
dc.description.abstractMucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS). A reduction in or absence of effective GALNS leads to faulty catabolism of keratan sulfate and chondroitin-6-sulfate within the lysosome; their accumulation causes cell, tissue, and organ dysfunction. The connective tissue, cartilage, ligaments, and bone of patients with Morquio A syndrome are particularly affected. Patients with Morquio A syndrome are at high risk of neurological complications because of their skeletal abnormalities; many patients are in danger of cervical myelopathy due to odontoid hypoplasia and ligamentous laxity leading to atlantoaxial subluxation. The multisystemic involvement of patients with Morquio A syndrome requires treatment by multidisciplinary teams; not all members of these teams may be aware of the potential for subluxation and quadriparesis. A multinational, multidisciplinary panel of 10 skeletal dysplasia or Morquio A syndrome specialists convened in Miami, FL on December 7 and 8, 2012 to develop consensus recommendations for early identification and effective management of spinal cord compression, for anesthesia and surgical best practices, and for effectual cardiac and respiratory management in patients with Morquio A syndrome. The target audience for these recommendations includes any physician who may encounter a patient with Morquio A syndrome, however doctors who do not have access to the full spectrum of specialists and resources needed to support patients with Morquio A syndrome should attempt to refer patients to a center that does. Physicians who manage Morquio A syndrome or comorbid conditions within specialty centers should review these expert panel recommendations and fully understand the implications of spinal cord instability for their own practices. © 2014.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.ymgme.2014.10.010
dc.identifier.issn10967206
dc.identifier.issn10967192
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22616
dc.language.isoengspa
dc.publisherAcademic Press Inc.spa
dc.relation.citationEndPage18
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage11
dc.relation.citationTitleMolecular Genetics and Metabolism
dc.relation.citationVolumeVol. 114
dc.relation.ispartofMolecular Genetics and Metabolism, ISSN:10967206, 10967192, Vol.114, No.1 (2015); pp. 11-18spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84920498786&doi=10.1016%2fj.ymgme.2014.10.010&partnerID=40&md5=a759d6218905eb04318bf3e421d0a0d0spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAnesthesia inductionspa
dc.subject.keywordClinical evaluationspa
dc.subject.keywordComparative studyspa
dc.subject.keywordConsensusspa
dc.subject.keywordHumanspa
dc.subject.keywordMedical assessmentspa
dc.subject.keywordMedical specialistspa
dc.subject.keywordMorquio syndromespa
dc.subject.keywordPatient assessmentspa
dc.subject.keywordPatient monitoringspa
dc.subject.keywordPerioperative periodspa
dc.subject.keywordPersonal experiencespa
dc.subject.keywordReviewspa
dc.subject.keywordSpinal cord compressionspa
dc.subject.keywordComplicationspa
dc.subject.keywordConsensus developmentspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMorquio syndromespa
dc.subject.keywordPerioperative periodspa
dc.subject.keywordSpinal cord compressionspa
dc.subject.keywordHumansspa
dc.subject.keywordMucopolysaccharidosis ivspa
dc.subject.keywordPerioperative carespa
dc.subject.keywordSpinal cord compressionspa
dc.subject.keywordAtlanto axial fusionspa
dc.subject.keywordGalns proteineng
dc.subject.keywordIntubationeng
dc.subject.keywordMps ivaspa
dc.subject.keywordPractice guidelinespa
dc.subject.keywordSpinal cord compressionspa
dc.titleDiagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndromespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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